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Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Nickerson ML, et al. Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6. Cancer Cell. 2002. PMID: 12204536 Free article.
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Schmidt LS, et al. Among authors: nickerson ml. Am J Hum Genet. 2005 Jun;76(6):1023-33. doi: 10.1086/430842. Epub 2005 Apr 25. Am J Hum Genet. 2005. PMID: 15852235 Free PMC article.
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.
Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM, Zbar B. Schmidt LS, et al. Among authors: nickerson ml. Am J Hum Genet. 2001 Oct;69(4):876-82. doi: 10.1086/323744. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11533913 Free PMC article.
Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene.
Schmidt LS, Nickerson ML, Angeloni D, Glenn GM, Walther MM, Albert PS, Warren MB, Choyke PL, Torres-Cabala CA, Merino MJ, Brunet J, Bérez V, Borràs J, Sesia G, Middelton L, Phillips JL, Stolle C, Zbar B, Pautler SE, Linehan WM. Schmidt LS, et al. Among authors: nickerson ml. J Urol. 2004 Oct;172(4 Pt 1):1256-61. doi: 10.1097/01.ju.0000139583.63354.e0. J Urol. 2004. PMID: 15371818
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL, Furihata M, Oishi S, Zhen W, Burke TR Jr, Linehan WM, Schmidt LS, Zbar B. Baba M, et al. Among authors: nickerson ml. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15552-7. doi: 10.1073/pnas.0603781103. Epub 2006 Oct 6. Proc Natl Acad Sci U S A. 2006. PMID: 17028174 Free PMC article.
59 results